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Once Upon A GeneA Rare Disease Podcast Author: Effie Parks
As a new parent of a child with a rare genetic syndrome, I was lost. There was no guide. There was no rulebook. This was not what I had imagined. As I navigated my way through this new reality, I realized something that should have been simple, but was not. A truth that had always been there, but that I had lost sight of for a time - I am not alone. And neither are you. These are the stories of my family, and of families like ours. These are the stories of how we have persevered, cried, bonded, and grown. These are the stories of children who have been told that they cannot, and that have proved the world wrong. Language: en Genres: Kids & Family, Parenting, Personal Journals, Society & Culture Contact email: Get it Feed URL: Get it iTunes ID: Get it Trailer: |
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Uniting Strengths - Rare Disease Collaboration on a Shared Patient Registry Through Sanford Cords with Cure Mito and Hope for PDCD Leaders Frances Muenzer Pimentel and Sophia Zilber
Episode 229
Thursday, 16 May, 2024
ONCE UPON A GENE - EPISODE 229 Uniting Strengths - Rare Disease Collaboration on a Shared Patient Registry Through Sanford Cords with Cure Mito and Hope for PDCD Leaders Frances Muenzer Pimentel and Sophia Zilber Frances Muenzer Pimentel and Sophia Zilber have united the Hope for PDCD Foundation and the Cure Mito Foundation to launch a global joint registry and they're here to share about the collaboration. EPISODE HIGHLIGHTS What is a registry and why does a patient group need to have one? A registry is a way to organize data as it relates to a particular disease. It's useful to bring the community together to learn where patients are in the world, aligning patients with clinical trials, and monitoring how a disease progresses over time. Sharing and publishing results collected in the registry also helps to bring awareness about the disease. What inspired the launch of a joint registry? Our populations have an overlap in patients and we wanted to make it as easy as possible for patients and caregivers to participate in the registry. In addition to centralizing the registry overlap, we've made the process optimized for mobile, all in one place and as seamless as possible. What is the importance of participating in a registry and a natural history study? Participating in a registry and natural history study are among the most important things you can do to contribute to the research of your disease. It doesn't cost anything but your time and there's no better way to get an accurate count of the patient population than through patient registries. This tool helps with having conversations with biotech companies and to prove that you're a commercially viable disease. What is next for the registry and what are your goals? We still have a lot of work left to evangelize the registry and educate our community on the difference between a registry and natural history study, explaining how crucial they both are. The work we're doing with the registry combined with newborn screening advocacy and we won't be able to be ignored anymore. How can rare disease families start a registry? There's a working group called Best Data Practices for Rare Disease Patient Foundations and Researchers on PHUSE with resources available on how to start a registry. The materials are easy to read and follow and they're available to everyone. LINKS AND RESOURCES MENTIONED Global Genes Conference - Week in RARE https://globalgenes.org/week-in-rare/ ONCE UPON A GENE - EPISODE 228 - Strength In Unity - The Power of Consolidated Rare Disease Advocacy, Collaborative Breathroughs, and the Every Cure Initiative with Dr. David Fajgenbaum https://effieparks.com/podcast/episode-228-strength-in-unity ONCE UPON A GENE - EPISODE 194 - A Guide for Rare Disease Patient Advocacy Groups - Choosing and Designing a Patient Registry with Sophia Zilber https://effieparks.com/podcast/episode-194-a-guide-for-rare-disease-patient-advocacy-groups Patient registries: a practical guide for patient organizations https://sophiazilber.gumroad.com/l/registries Hope for PDCD Foundation https://www.hopeforpdcd.org/ Cure Mito Foundation https://www.curemito.org/ CoRDS https://cords.sanfordresearch.org/account/login Best Data Practices for Rare Disease Patient Foundations and Researchers https://advance.phuse.global/display/WEL/Best+Data+Practices+for+Rare+Disease+Patient+Foundations+and+Researchers CONNECT WITH EFFIE PARKS Website https://effieparks.com/ Twitter https://twitter.com/OnceUponAGene Instagram https://www.instagram.com/onceuponagene.podcast/?hl=en Built Ford Tough Facebook Group https://www.facebook.com/groups/1877643259173346/
